Activity
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11 actions
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| Retinal disorders v8.98 | SPG11 |
Eleanor Williams Tag Q3_25_promote_green was removed from gene: SPG11. Tag Q3_25_NHS_review was removed from gene: SPG11. |
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| Retinal disorders v8.97 | SPG11 | Eleanor Williams reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.96 | SPG11 |
Eleanor Williams Source NHS GMS was added to SPG11. Source Expert Review Green was added to SPG11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v8.23 | SPG11 | Achchuthan Shanmugasundram Classified gene: SPG11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.23 | SPG11 | Achchuthan Shanmugasundram Gene: spg11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.22 | SPG11 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 29 August 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.22 | SPG11 | Achchuthan Shanmugasundram Phenotypes for gene: SPG11 were changed from Retinal dystrophy; spastic paraplegia to Spastic paraplegia 11, autosomal recessive, OMIM:604360; retinal disorder, MONDO:0005283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.21 | SPG11 | Achchuthan Shanmugasundram Publications for gene: SPG11 were set to PMID: 19194956, 36343909, 38613257,21035867 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.20 | SPG11 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: SPG11. Tag Q3_25_NHS_review tag was added to gene: SPG11. |
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| Retinal disorders v8.14 | SPG11 | Ida Ertmanska reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 19194956, 36343909, 38613257, 39391989; Phenotypes: Spastic paraplegia 11, autosomal recessive, OMIM:604360, retinal disorder, MONDO:0005283; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.5 | SPG11 |
Siying Lin gene: SPG11 was added gene: SPG11 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to PMID: 19194956, 36343909, 38613257,21035867 Phenotypes for gene: SPG11 were set to Retinal dystrophy; spastic paraplegia Mode of pathogenicity for gene: SPG11 was set to Other Review for gene: SPG11 was set to GREEN Added comment: Kjellin syndrome is a form of complex hereditary spastic paraplegia, associated with 2 genes, SPG11 and SPG15/ZFYVE26. Patients have a consistent retinal phenotype with flecked maculopathy and associated autofluorescence changes. ZFYVE26 is already listed as a green gene on the retinal panel. Sources: Literature |
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